A. Sewell, J. Herwig, H. Böhles
Nov 1, 1993
Citations
2
Influential Citations
34
Citations
Quality indicators
Journal
European Journal of Pediatrics
Abstract
A 28-month-old Turkish girl presented with recurrent bronchopneumonia and severe muscular hypotonia. Urinary excretion of ethylmalonic acid was persistently elevated, methylsuccinate appearing only in stress situations. Studies in cultured fibroblasts showed a deficiency of short-chain acyl-CoA dehydrogenase.